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tmem216 transmembrane protein 216 [ Danio rerio (zebrafish) ]

Gene ID: 555988, updated on 27-Dec-2024

Summary

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Official Symbol
tmem216provided by ZNC
Official Full Name
transmembrane protein 216provided by ZNC
Primary source
ZFIN:ZDB-GENE-100818-1
See related
Ensembl:ENSDARG00000091576 AllianceGenome:ZFIN:ZDB-GENE-100818-1
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
si:rp71-1d10.5
Summary
Involved in cilium assembly. Acts upstream of or within convergent extension involved in gastrulation and photoreceptor cell outer segment organization. Predicted to be located in several cellular components, including cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary transition zone. Is expressed in brain; eye; liver; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Joubert syndrome; Joubert syndrome 2; and Meckel syndrome 2. Orthologous to human TMEM216 (transmembrane protein 216). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs
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Genomic context

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See tmem216 in Genome Data Viewer
Location:
chromosome: 14
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 14 NC_007125.7 (25034811..25042101, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 14 NC_007125.6 (24737566..24744856, complement)

Chromosome 14 - NC_007125.7Genomic Context describing neighboring genes Neighboring gene peroxisome proliferator-activated receptor gamma, coactivator 1 beta Neighboring gene phosphodiesterase 6A, cGMP-specific, rod, alpha Neighboring gene si:rp71-1d10.6 Neighboring gene matrin 3-like 1.1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. TMEM216 Deletion Causes Mislocalization of Cone Opsin and Rhodopsin and Photoreceptor Degeneration in Zebrafish. Liu Y, et al. Invest Ophthalmol Vis Sci, 2020 Jul 1. PMID 32687549, Free PMC Article
  2. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Valente EM, et al. Nat Genet, 2010 Jul. PMID 20512146, Free PMC Article
  3. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Lee JH, et al. Science, 2012 Feb 24. PMID 22282472, Free PMC Article
  4. Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216. Venkatesh B, et al. Mol Biol Evol, 2013 Jan. PMID 22936720, Free PMC Article
  5. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152675, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by ZFIN

Process Evidence Code Pubs
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within convergent extension involved in gastrulation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within photoreceptor cell outer segment organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 216

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001328140.1 → NP_001315069.1  transmembrane protein 216

    Status: VALIDATED

    Source sequence(s)
    AL645792, EH485361
    UniProtKB/Swiss-Prot
    E7EYQ9
    UniProtKB/TrEMBL
    A0A8M1P9Z5
    Related
    ENSDARP00000111752.1, ENSDART00000131027.3
    Conserved Domains (1) summary
    pfam09799
    Location:20 → 123
    Transmemb_17; Predicted membrane protein

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007125.7 Reference GRCz11 Primary Assembly

    Range
    25034811..25042101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E7EYQ9.1 GenPept UniProtKB/Swiss-Prot:E7EYQ9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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